{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:07:57Z","timestamp":1761718077117,"version":"build-2065373602"},"reference-count":21,"publisher":"BMJ","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1996,7]]},"abstract":"<jats:p>We report on a folate sensitive fragile site at Xq27-28 in a girl with a multiple congenital anomalies and mental retardation syndrome, who also carries a duplication of the long arm of chromosome 8. The fragile site was shown by FISH to be distal to both FRAXA and FRAXE. DNA hybridisation with probe OxF14 showed the amplification of the CGG repeats of locus FRAXF in the patient and in her clinically normal mother.<\/jats:p>","DOI":"10.1136\/jmg.33.7.611","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"611-614","source":"Crossref","is-referenced-by-count":6,"title":["FRAXF in a patient with chromosome 8 duplication."],"prefix":"10.1136","volume":"33","author":[{"given":"A M","family":"Vianna-Morgante","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R C","family":"Mingroni-Netto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A C","family":"Barbosa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P A","family":"Otto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Rosenberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1996,7,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1097","DOI":"10.1126\/science.252.5009.1097","article-title":"Instability of a 550 bp DNA segment and abnormal methylation in fragile X syndrome","volume":"252","author":"Oberle, I.; Rousseau, F.; Heitz, D.","year":"1991","unstructured":"Oberle I, Rousseau F, Heitz D, et al. 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